Splicing and Disease - Musketeers’ Memorandum (Muskateer)

Research summary

It has recently been recognised that many gene sequence variations found during genetic testing may cause disease by altering gene splicing. Splicing is an essential part of the processing of genes before the protein is made. In particular, changes which had previously been though to be benign may not actually be so. The studies test the hypothesis that some of these gene sequence variants are pathogenic by using either direct RNA analysis or a minigene assay. The result would not otherwise be detectable by other methods and will provide important diagnostic and reccurence risk information for the families concerned. Furthermore this knowledge allows the development of possible future correction strategies which can be tested using patient cell lines.

Principal Investigator

Dr Edward Blair

Contact us

Email: crndirectdeliveryteam@ouh.nhs.uk

IRAS number

49685